| Rare variants in the GABAA receptor subunit epsilon identified in patients with a wide spectrum of epileptic phenotypes. | Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.
Markus F, Angelini C, Trimouille A, Rudolf G, Lesca G, Goizet C, Lasseaux E, Arveiler B, van Slegtenhorst M, Brooks AS, Abou Jamra R, Korenke GC, Neidhardt J, Owczarek-Lipska M., Free PMC Article | 05/29/2021 |
| Comprehensive Transcriptome Profiling of Cryptic CBFA2T3-GLIS2 Fusion-Positive AML Defines Novel Therapeutic Options: A COG and TARGET Pediatric AML Study. | Comprehensive Transcriptome Profiling of Cryptic CBFA2T3-GLIS2 Fusion-Positive AML Defines Novel Therapeutic Options: A COG and TARGET Pediatric AML Study.
Smith JL, Ries RE, Hylkema T, Alonzo TA, Gerbing RB, Santaguida MT, Eidenschink Brodersen L, Pardo L, Cummings CL, Loeb KR, Le Q, Imren S, Leonti AR, Gamis AS, Aplenc R, Kolb EA, Farrar JE, Triche TJ Jr, Nguyen C, Meerzaman D, Loken MR, Oehler VG, Bolouri H, Meshinchi S., Free PMC Article | 12/19/2020 |
| data from the present study suggest a marginal role of GABRE rs1139916 in the risk for migraine in women. | Gamma-aminobutyric acid (GABA) receptors GABRA4, GABRE, and GABRQ gene polymorphisms and risk for migraine.
García-Martín E, Esguevillas G, Serrador M, Alonso-Navarro H, Navacerrada F, Amo G, García-Albea E, Agúndez JAG, Jiménez-Jiménez FJ. | 10/5/2019 |
| This study showed that in male groups, the expression of GABRE was generally lower in schizophrenia cases compared to the control. | Sex differences in GABAergic gene expression occur in the anterior cingulate cortex in schizophrenia.
Bristow GC, Bostrom JA, Haroutunian V, Sodhi MS., Free PMC Article | 07/2/2016 |
| Data indicate that GABA(A) receptor subunit epsilon (GABRE) approximately miR-452 approximately miR-224 locus is downregulated and hypermethylated in prostate cancer and is a promising epigenetic candidate biomarker for prostate cancer diagnosis and prognosis. | Hypermethylation of the GABRE~miR-452~miR-224 promoter in prostate cancer predicts biochemical recurrence after radical prostatectomy.
Kristensen H, Haldrup C, Strand S, Mundbjerg K, Mortensen MM, Thorsen K, Ostenfeld MS, Wild PJ, Arsov C, Goering W, Visakorpi T, Egevad L, Lindberg J, Grönberg H, Høyer S, Borre M, Ørntoft TF, Sørensen KD. | 12/20/2014 |
| GABRE protein levels were significantly increased in schizophrenia, major depressive disorder, and bipolar disorder patients' lateral cerebellum compared to controls. | Expression of GABAA α2-, β1- and ε-receptors are altered significantly in the lateral cerebellum of subjects with schizophrenia, major depression and bipolar disorder.
Fatemi SH, Folsom TD, Rooney RJ, Thuras PD., Free PMC Article | 06/7/2014 |
| single nucleotide polymorphisms studied in the GABRA4, GABRE, and GABRQ genes are not related to the risk for familial ET. | Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor.
García-Martín E, Martínez C, Alonso-Navarro H, Benito-León J, Lorenzo-Betancor O, Pastor P, Puertas I, Rubio L, López-Alburquerque T, Agúndez JA, Jiménez-Jiménez FJ. | 10/22/2011 |
| Using published alpha subunit data we identified two principal components labeled 'Decreasing' (alpha2, alpha5, beta1, gamma1 and gamma3) and 'Dynamic' (alpha1, alpha4, beta2 and gamma2) responsible for 84% of variation in GABA(A)R subunit development. | Developmental co-regulation of the beta and gamma GABAA receptor subunits with distinct alpha subunits in the human dorsolateral prefrontal cortex.
Fillman SG, Duncan CE, Webster MJ, Elashoff M, Weickert CS. | 01/15/2011 |
| Although GABRE genes did not show positive association, further studies are necessary to consider the role of other GABA receptor genes in migraine susceptibility | Investigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility.
Fernandez F, Esposito T, Lea RA, Colson NJ, Ciccodicola A, Gianfrancesco F, Griffiths LR, Fernandez F, Esposito T, Lea RA, Colson NJ, Ciccodicola A, Gianfrancesco F, Griffiths LR., Free PMC Articles: PMC2615754, PMC2615754 | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (5) articlesAssociation study of 182 candidate genes in anorexia nervosa.
Pinheiro AP, Bulik CM, Thornton LM, Sullivan PF, Root TL, Bloss CS, Berrettini WH, Schork NJ, Kaye WH, Bergen AW, Magistretti P, Brandt H, Crawford S, Crow S, Fichter MM, Goldman D, Halmi KA, Johnson C, Kaplan AS, Keel PK, Klump KL, La Via M, Mitchell JE, Strober M, Rotondo A, Treasure J, Woodside DB. Genetical genomic determinants of alcohol consumption in rats and humans.
Tabakoff B, Saba L, Printz M, Flodman P, Hodgkinson C, Goldman D, Koob G, Richardson HN, Kechris K, Bell RL, Hübner N, Heinig M, Pravenec M, Mangion J, Legault L, Dongier M, Conigrave KM, Whitfield JB, Saunders J, Grant B, Hoffman PL, WHO/ISBRA Study on State and Trait Markers of Alcoholism. Investigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility.
Fernandez F, Esposito T, Lea RA, Colson NJ, Ciccodicola A, Gianfrancesco F, Griffiths LR, Fernandez F, Esposito T, Lea RA, Colson NJ, Ciccodicola A, Gianfrancesco F, Griffiths LR. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
Gratacòs M, Costas J, de Cid R, Bayés M, González JR, Baca-García E, de Diego Y, Fernández-Aranda F, Fernández-Piqueras J, Guitart M, Martín-Santos R, Martorell L, Menchón JM, Roca M, Sáiz-Ruiz J, Sanjuán J, Torrens M, Urretavizcaya M, Valero J, Vilella E, Estivill X, Carracedo A, Psychiatric Genetics Network Group. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype.
Craddock N, Jones L, Jones IR, Kirov G, Green EK, Grozeva D, Moskvina V, Nikolov I, Hamshere ML, Vukcevic D, Caesar S, Gordon-Smith K, Fraser C, Russell E, Norton N, Breen G, St Clair D, Collier DA, Young AH, Ferrier IN, Farmer A, McGuffin P, Holmans PA, Wellcome Trust Case Control Consortium (WTCCC), Donnelly P, Owen MJ, O'Donovan MC. | 01/11/2009 |
| Increased intracortical excitability is noted in subjects affected by the GABA A receptor gamma 2 subunit (GABRG2 Arg43Glu) mutation; findings are likely to represent an important clue to mechanisms linking this gene defect and the epilepsy phenotype. | Intracortical hyperexcitability in humans with a GABAA receptor mutation.
Fedi M, Berkovic SF, Macdonell RA, Curatolo JM, Marini C, Reutens DC. | 01/21/2010 |
| Increased expression of epsilon, in conjunction with alpha2 and beta3 subunits, results in expression of GABAA receptors with correspondingly altered rectification, deactivation and levels of spontaneous openings, but not increased total current density. | Trafficking and potential assembly patterns of epsilon-containing GABAA receptors.
Jones BL, Henderson LP. | 01/21/2010 |
| Analysis of epilepsy inter-patient variability of eleven highly expressed GABAAR subunit mRNAs found seven of the subunits varied between patients, as did whole cell GABAAR currents. | Heterogeneous GABAA receptor subunit expression in pediatric epilepsy patients.
Porter BE, Zhang G, Celix J, Hsu FC, Raol YH, Telfeian A, Gallagher PR, Coulter DA, Brooks-Kayal AR. | 01/21/2010 |
| We infer that activation by anesthetics and GABA induces a similar conformational change at the M2 segment 6' position that is related to channel opening. | Channel opening by anesthetics and GABA induces similar changes in the GABAA receptor M2 segment.
Rosen A, Bali M, Horenstein J, Akabas MH., Free PMC Article | 01/21/2010 |
| We report here that the GABA-activated current can be potentiated at pH 8.4 for both alphabeta and alphabeta gamma subunit-containing receptors, but only at GABA concentrations below the EC40. | Proton modulation of recombinant GABA(A) receptors: influence of GABA concentration and the beta subunit TM2-TM3 domain.
Wilkins ME, Hosie AM, Smart TG., Free PMC Article | 01/21/2010 |